{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 474,
          "referenceAllele": "R",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NP_000775.1:p.Arg474Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340214",
          "hgvs": "NM_000784.4:c.1421G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19297[alleleid]",
        "alleleId": 19297,
        "preferredName": "NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4258",
        "RCV": [
          "RCV000004480",
          "RCV001650828",
          "RCV003415650"
        ],
        "variationId": 4258
      }
    ]
  },
  "type": "amino-acid"
}